Rare Turner syndrome and lupus coexistence with insights from DNA methylation patterns.
Clin Immunol
; 266: 110310, 2024 Sep.
Article
em En
| MEDLINE
| ID: mdl-39009202
ABSTRACT
Systemic lupus erythematosus (SLE or lupus) is a complex autoimmune disease that can affect multiple organs. While the exact disease etiology remains incompletely understood, there is a suggested influence of X-chromosome dosage in the pathogenesis of lupus. Here, we report a rare case of a female patient diagnosed with mosaic Turner syndrome and subsequently presenting with juvenile-onset SLE. DNA methylation patterns were analyzed in this patient and compared with age-matched female SLE controls, revealing higher methylation levels in interferon-regulated genes previously shown to be hypomethylated in SLE. These data provide a potential link between a gene-dose effect from the X-chromosome and the lupus-defining epigenotype. We hypothesize that the attenuated demethylation in interferon-regulated genes might provide a protective effect explaining the rarity of SLE in Turner syndrome.
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Turner
/
Metilação de DNA
/
Lúpus Eritematoso Sistêmico
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article